Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Christina A. Eichstaedt, Gabriel Maldonado-Velez, Rajiv D. Machado, Srimmitha Balachandar, Florence Coulet, Kristina Day, Dennis Dooijes, Mélanie Eyries, Stefan Gräf, Daniela Macaya, Memoona Shaukat, Laura Southgate, Jair Antonio Tenorio, Wendy K. Chung, Carrie L. Welch, Micheala A. Aldred
The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.
Human Mutation · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine